Associated Papers
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered.
Mannavola D et al.
Journal of Endocrinological Investigation, 2002
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.
Clifton-Bligh RJ et al.
Molecular Endocrinology (baltimore, Md.), 1998
Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors.
Yoh SM et al.
Molecular Endocrinology (baltimore, Md.), 1997
Dominant negative and DNA-binding properties of mutant thyroid hormone receptors that are defective in homodimerization but not heterodimerization.
Kitajima K et al.
Thyroid : Official Journal of the American Thyroid Association, 1995
The variable clinical phenotype in thyroid hormone resistance syndrome.
Beck-Peccoz P et al.
Thyroid : Official Journal of the American Thyroid Association, 1994
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